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CASE REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1414129

Clinicopathological characteristics of SASH1 mutations related dyschromatosis: A rethinking of the classification of dyschromatosis

Provisionally accepted
Tingmei Wang Tingmei Wang Dong Li Dong Li Yunhua Deng Yunhua Deng *
  • Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China

The final, formatted version of the article will be published soon.

    The term "dyschromatosis" refers to a group of pigmentary dermatoses presenting with both hyper-and hypopigmentation, including dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), and familial progressive hyper-and hypopigmentation (FPHH). A peculiar phenotype of dyschromatosis presented as multiple lentigines and hypopigmentation with various sizes and shapes is identified to be associated with SASH1 mutations and has been reported more and more recently. In this study, we analyzed the clinical manifestation, pathological pattern and genetic basis in a five-generation family and a sporadic patient with dyschromatosis caused by SASH1 mutations, finding that the SASH1 related dyschromatosis mignt be different from DSH, DUH or FPHH. Additionally, the SASH1 mutations could also lead to another pigmentary phenotype: multiple lentigines. High consistency in clinicopathological features and genetic basis in these two SASH1 related pigmentary disorders suggests that these two conditions caused by SASH1 mutations might actually belong to a disease spectrum. Our findings could help to enhance more comprehensive understanding for SASH1 related pigmentary dermatose.

    Keywords: SASH1, dyschromatosis, Dyschromatosis universalis hereditaria, Multiple lentigines, ABCB6

    Received: 08 Apr 2024; Accepted: 10 Feb 2025.

    Copyright: © 2025 Wang, Li and Deng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Yunhua Deng, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China

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